LEADER 04529nam 2201201z- 450 001 9910367759103321 005 20231214133151.0 010 $a3-03921-506-X 035 $a(CKB)4100000010106126 035 $a(oapen)https://directory.doabooks.org/handle/20.500.12854/61057 035 $a(EXLCZ)994100000010106126 100 $a20202102d2019 |y 0 101 0 $aeng 135 $aurmn|---annan 181 $ctxt$2rdacontent 182 $cc$2rdamedia 183 $acr$2rdacarrier 200 10$aTowards Mechanism-based Treatments for Fragile X Syndrome 210 $cMDPI - Multidisciplinary Digital Publishing Institute$d2019 215 $a1 electronic resource (250 p.) 311 $a3-03921-505-1 330 $aIt has been more than 25 years since the identification of the FMR1 gene and the demonstration of the causative role of CGG-repeat expansion in the disease pathology of fragile X syndrome (FXS), but the underlying mechanisms involved in the expansion mutation and the resulting gene silencing still remain elusive. Our understanding of the pathways impacted by the loss of FMRP function has grown tremendously, and has opened new avenues for targeted treatments for FXS. However, the failure of recent clinical trials that were based on successful preclinical studies using the Fmr1 knockout mouse model has forced the scientific community to revisit clinical trial design and identify objective outcome measures. There has also been a renewed interest in restoring FMR1 gene expression as a possible treatment approach for FXS. This special issue of Brain Sciences highlights the progress that has been made towards understanding the disease mechanisms and how this has informed the development of treatment strategies that are being explored for FXS. 610 $alymphoblast 610 $apluripotent stem cells 610 $aFMR1 610 $aGene editing 610 $aX chromosome 610 $aFmr1 610 $aepigenetic gene silencing 610 $aFMR1 gene 610 $aFragile X syndrome 1 610 $arepeat instability 610 $acharacteristics that have the greatest impact 610 $aDNA instability 610 $aworking memory 610 $alanguage development 610 $amosaicism 610 $aCRISPR 3 610 $aclinical trials 610 $aautism spectrum disorders 610 $aFmr1 KO mouse 610 $aautomated vocal analysis 610 $abase excision repair (BER) 610 $ainhibitory control 610 $acerebral spinal fluid 610 $aiPSC 610 $adrug development 610 $atargeted treatments 610 $amolecular biomarkers 610 $aviral vector 610 $aavoidance 610 $abiomarker 610 $aset-shifting 610 $aearly identification 610 $aexpansion 610 $aanxiety 610 $aplanning 610 $avoice of the person 610 $amismatch repair (MMR) 610 $agene reactivation 610 $adouble-strand break repair (DSBR) 610 $anewborn screening 610 $aintellectual disability 610 $aprocessing speed 610 $avoice of the patient 610 $afragile X syndrome 610 $aadeno-associated virus 610 $aneurodevelopmental disorders 610 $ahistone methylation 610 $aNon-homologous end-joining (NHEJ) 610 $aASD 610 $aFxr2 610 $aFragile X-associated Tremor/Ataxia Syndrome 2 610 $aTrinucleotide Repeat 4 610 $aCGG Repeat Expansion Disease 610 $aDNA methylation 610 $acontraction 610 $afragile X mental retardation protein 610 $aRNA:DNA hybrid 610 $abehavior 610 $adevelopmental disorders 610 $acognition 610 $afemales 610 $aFMRP 610 $aFragile X Syndrome 610 $aunstable repeat diseases 610 $aprotein synthesis 610 $abrain 610 $acognitive flexibility 610 $atreatment development 610 $afibroblast 610 $aPRC2 610 $atranscription coupled repair (TCR) 610 $abest practices 610 $aattention 610 $aFragile X 610 $aexecutive function 700 $aKumari$b Daman$4auth$01311272 702 $aGazy$b Inbal$4auth 906 $aBOOK 912 $a9910367759103321 996 $aTowards Mechanism-based Treatments for Fragile X Syndrome$93030079 997 $aUNINA